P191L (p.Pro191Leu) variant of SLC37A4 (O43826)
P191L (p.Pro191Leu) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P191L (p.Pro191Leu) variant details
- p.Pro191Leu
- rs193302888
- UniProt VAR 032113
- 1000Genomes rs193302888
- TOPMed rs193302888
- Pathogenic
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 29.30
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Pathogenic (Glucose-6-phosphate transport defect)
- EBI: Pathogenic (in GSD1B)
- UniProt: Pathogenic (in GSD1B)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with… (PMID 10874322)
- Cited in: Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (PMID 10026167)